Results 131 to 140 of about 2,350,820 (217)

N-acetyl-L-leucine normalizes Transcription Factor EB activity by stereospecific bidirectional modulation in a HeLa cell model of Niemann-Pick disease type C. [PDF]

PLoS One
Davis LC, Annaert W, Braine R, Churchill GC, Factor M, Fields T, Patterson M, Platt F, Shepherd D, Strupp M, Galione A.   +10 more
europepmc   +1 more source

Developmental brain programmes and biomarker activation in Alzheimer's disease. [PDF]

Brain Commun
Pini L, Margoni M, Filippi M, Imbimbo BP.   +3 more
europepmc   +1 more source

Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes. [PDF]

Int J Neonatal Screen
Courtney E, Isenberg SL, Lim T, Pickens CA, Lee R, Cuthbert C, Petritis K.   +6 more
europepmc   +1 more source

The Melon Sterol Transporter Niemann-Pick C1 Protein Is a New Interactor of <i>Cucumber mosaic virus</i> Movement Protein. [PDF]

Viruses
Real N, Villar I, Liu B, Gajjout M, Hou W, Martín-Hernández AM.   +5 more
europepmc   +1 more source

Case Report: Interleukin-23 blockade achieves sustained remission in Niemann-Pick type C-associated Crohn's disease refractory to anti-tumor necrosis factor therapy. [PDF]

Front Immunol
Kakiuchi T, Shimada S, Zhang Y, Nomura M, Yoshiura M.   +4 more
europepmc   +1 more source

Niemann-Pick Disease [PDF]

, 2019
openaire   +1 more source

Multi-omics reveal phosphatidic acid phosphatases modify Niemann-Pick type C disease severity. [PDF]

iScience
Munkacsi AB, Conway GE, Multerer K, Jackson MD, Csaki L, Rajakumar T, Sheridan JP, Niktab E, Hwu WL, Chien YH, Walterfang M, Del Rio Hernandez C, Chan RB, Zhou B, Nandakumar R, Zhang P, Di Paolo G, Maue RA, Reue K, Sturley SL.   +19 more
europepmc   +1 more source

Activation of pro-survival autophagy by a small molecule promoting p62 oligomerization. [PDF]

J Biol Chem
Panek J, Fielder E, Sun C, Crabtree S, Kataura T, Wilson N, Baheerathan L, Tang J, Booth L, Yue W, Richardson G, Holder L, Miller GJ, Reynisson J, Sarkar S, Korolchuk VI.   +15 more
europepmc   +1 more source

Transport of sphingolipids by yeast Npc2 supports phase separation of the vacuole membrane. [PDF]

J Biol Chem
Kim H, Lipp NF, Juarez-Contreras I, Wong AM, Budin I.   +4 more
europepmc   +1 more source